Variant report

Variant	rs41294410
Chromosome Location	chr11:64082051-64082052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64081766-64082585	A549	lung:	n/a	n/a
2	POLR2A	chr11:64081992-64082560	PFSK-1	brain:	n/a	n/a
3	CTCF	chr11:64082040-64082190	HL-60	blood:	n/a	n/a
4	CTCF	chr11:64082000-64082150	Caco-2	colon:	n/a	n/a
5	POLR2A	chr11:64080095-64085877	K562	blood:	n/a	n/a
6	CTCF	chr11:64082040-64082190	WI-38	lung:	n/a	n/a
7	CTCF	chr11:64082020-64082170	SAEC	small airway:	n/a	n/a
8	CTCF	chr11:64081960-64082110	GM12872	blood:	n/a	n/a
9	NR2F2	chr11:64081879-64082398	MCF-7	breast:	n/a	n/a
10	CTCF	chr11:64082000-64082150	GM12867	blood:	n/a	n/a
11	CTCF	chr11:64082020-64082170	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr11:64082004-64082247	K562	blood:	n/a	n/a
13	CTCF	chr11:64082000-64082150	GM12865	blood:	n/a	n/a
14	CTCF	chr11:64081961-64082271	K562	blood:	n/a	n/a
15	POLR2A	chr11:64081391-64086324	GM12892	blood:	n/a	n/a
16	CTCF	chr11:64081980-64082130	HVMF	connective:	n/a	n/a
17	CTCF	chr11:64081970-64082248	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr11:64082020-64082170	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr11:64082045-64082199	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:64082000-64082150	NHEK	skin:	n/a	n/a
21	POLR2A	chr11:64081037-64082394	HL-60	blood:	n/a	n/a
22	CTCF	chr11:64081980-64082130	GM12866	blood:	n/a	n/a
23	CTCF	chr11:64082020-64082170	GM12871	blood:	n/a	n/a
24	RAD21	chr11:64082031-64082148	HepG2	liver:	n/a	n/a
25	CTCF	chr11:64082050-64082221	Gliobla	brain:	n/a	n/a
26	CTCF	chr11:64082040-64082190	AG10803	skin:	n/a	n/a
27	POLR2A	chr11:64082023-64082455	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr11:64082020-64082170	GM12875	blood:	n/a	n/a
29	POLR2A	chr11:64081956-64082440	GM12891	blood:	n/a	n/a
30	CTCF	chr11:64082000-64082150	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:64081830-64086244	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:64081813-64082276	K562	blood:	n/a	n/a
33	CTCF	chr11:64082040-64082190	GM12868	blood:	n/a	n/a
34	CTCF	chr11:64082020-64082170	AG04449	skin:	n/a	n/a
35	CTCF	chr11:64082040-64082190	GM12869	blood:	n/a	n/a
36	CTCF	chr11:64081990-64082265	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCFL	chr11:64082031-64082210	K562	blood:	n/a	n/a
38	CTCF	chr11:64081960-64082110	NHDF-neo	bronchial:	n/a	n/a
39	BHLHE40	chr11:64081995-64082205	K562	blood:	n/a	n/a
40	CTCF	chr11:64081980-64082130	HRE	kidney:	n/a	n/a
41	CTCF	chr11:64082025-64082247	K562	blood:	n/a	n/a
42	POLR2A	chr11:64082006-64082594	GM12891	blood:	n/a	n/a
43	CTCF	chr11:64081980-64082130	AG09319	gingival:	n/a	n/a
44	CTCFL	chr11:64081986-64082222	K562	blood:	n/a	n/a
45	CTCF	chr11:64082040-64082190	GM12866	blood:	n/a	n/a
46	CTCF	chr11:64082003-64082282	K562	blood:	n/a	n/a
47	NR2F2	chr11:64081912-64082330	K562	blood:	n/a	n/a
48	CTCF	chr11:64082040-64082190	RPTEC	kidney:	n/a	n/a
49	POLR2A	chr11:64082028-64082284	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr11:64081940-64082090	WI-38	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64078839..64083408-chr11:64108257..64111409,4	MCF-7	breast:
2	chr11:63969363..63977705-chr11:64080619..64088284,16	K562	blood:
3	chr11:64050229..64053074-chr11:64081177..64083173,2	MCF-7	breast:
4	chr11:64081246..64082787-chr11:64121396..64124105,2	K562	blood:
5	chr11:64080620..64083894-chr11:64124180..64128334,3	MCF-7	breast:
6	chr11:63991810..63993878-chr11:64081220..64083594,2	K562	blood:
7	chr11:64033536..64040775-chr11:64080684..64088458,16	K562	blood:
8	chr11:63952189..63953757-chr11:64081280..64082901,2	K562	blood:
9	chr11:64081914..64083604-chr13:20131985..20134984,2	MCF-7	breast:
10	chr11:64011010..64014787-chr11:64081606..64086263,4	MCF-7	breast:
11	chr11:64050061..64052819-chr11:64080707..64082589,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRDX5	TF binding region
ENSG00000173457	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000149761	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000162302	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000149743	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs56941849	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
6	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
7	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
8	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
11	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
12	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
13	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
14	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
15	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
16	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
17	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
18	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
19	nsv897672	chr11:63979643-64082807	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
20	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
21	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
22	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
23	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
24	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64074000-64084400	Weak transcription	Aorta	Aorta
2	chr11:64074200-64084400	Weak transcription	Ovary	ovary
3	chr11:64074400-64084200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:64074600-64083800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:64074600-64083800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:64074600-64083800	Weak transcription	HUVEC	blood vessel
7	chr11:64074600-64084000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:64074600-64084200	Weak transcription	Fetal Kidney	kidney
9	chr11:64074800-64082200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:64074800-64083600	Weak transcription	Osteobl	bone
11	chr11:64074800-64084000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:64074800-64084600	Weak transcription	Small Intestine	intestine
13	chr11:64075000-64083600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:64075000-64084000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:64075000-64084200	Weak transcription	Fetal Brain Male	brain
16	chr11:64075200-64082200	Weak transcription	Brain Angular Gyrus	brain
17	chr11:64075200-64082600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:64075200-64083600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:64075200-64083800	Weak transcription	Fetal Heart	heart
20	chr11:64075200-64084200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:64075200-64084200	Weak transcription	Psoas Muscle	Psoas
22	chr11:64075600-64084000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:64078400-64083200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:64078400-64083400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:64078400-64083600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:64078400-64084000	Strong transcription	Fetal Stomach	stomach
27	chr11:64078400-64084000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:64078800-64082600	Strong transcription	Fetal Intestine Small	intestine
29	chr11:64079800-64083800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:64079800-64084000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:64080000-64082200	Strong transcription	A549	lung
32	chr11:64080000-64082600	Strong transcription	Dnd41	blood
33	chr11:64080000-64082800	Strong transcription	Fetal Intestine Large	intestine
34	chr11:64080000-64083000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:64080000-64083000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr11:64080000-64083200	Strong transcription	Gastric	stomach
37	chr11:64080000-64083600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:64080000-64083800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:64080000-64083800	Genic enhancers	Right Ventricle	heart
40	chr11:64080000-64083800	Strong transcription	Thymus	Thymus
41	chr11:64080000-64084000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:64080000-64084200	Genic enhancers	Liver	Liver
43	chr11:64080000-64084800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:64080200-64082200	Genic enhancers	Fetal Muscle Leg	muscle
45	chr11:64080200-64083000	Strong transcription	Fetal Brain Female	brain
46	chr11:64080200-64083400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr11:64080200-64083600	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr11:64080200-64083600	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr11:64080200-64083800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:64080200-64084000	Strong transcription	Lung	lung

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